Clinical characteristics and prognosis of neonatal VACTERL association in 33 cases

Objective To study the clinical characteristics, treatment and prognosis of neonatal VACTERL association. Method The clinical data of newborns diagnosed with VACTERL association from January 2010 to December 2015 were collected and retrospectively analyzed. Result A total of 33 patients diagnosed with VACTERL association were included, including 23 males and 10 females. Among them, 17 cases were term infants, 15 cases premature infants and 1 case of overdue birth, with an admission age of 1 to 24 days. The most common deformities were cardiac anomalies (C) in 27 cases (81.8%), followed by anal atresia/anorectal malformation (A) in 25 cases (75.8%), renal deformity (R) in 24 cases (72.7%), limb abnormalities (L) in 20 cases (60.6%), Tracheoesophageal fistula (TEF) in 8 cases (24.2%) and vertebral abnormalities (V) in 3 cases (9.1%). 11 cases (33.3%) had other deformities. Among these 33 patients, 24 cases had 3 types of malformations and 9 cases had 4 types of malformations. The most common combination was ACR (n=8). 20 patients had no abnormalites on chromosome karyotype test including 2 patients had normal gene microarray results.16 patients received surgical treatment during neonatal period and 13 of them recovered and discharged.Among the other 17 cases received no surgery, only 1 patient improved and discharged. A telephone follow-up was proceeded in 14 discharged cases at 1 year old.Among them, 13 cases had good prognosis, however, the remaining one was dead. Conclusion VACTERL association is a rare non-random combination of multiple malformations. The early discovery and appropriately treatment after diagnosis will improve the prognosis and prevent death. Doctors should reinforce the ability to detect various types of deformities and examine the chromosome and gene properly. Key words: Abnormalities, multiple; Prognosis; VACTERL association; Infant, newborn